RXYLT1
Ribitol Xylosyltransferase 1
Gene Information Card
| Symbol | RXYLT1 |
|---|---|
| Full Name | ribitol xylosyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q14.2 |
| NCBI Gene ID | 10329 ncbi.nlm.nih.gov/gene/10329 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9Y2D8 |
| OMIM ID | 605862 |
| HGNC ID | 11876 |
| Aliases | TMEM5, C12orf29 |
Description
RXYLT1 (ribitol xylosyltransferase 1) encodes a transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of xylose from UDP-xylose to ribitol-5-phosphate during the biosynthesis of the O-mannosyl glycan core M3, which is essential for proper dystroglycan O-mannosylation. Mutations in RXYLT1 disrupt this glycosylation pathway, leading to reduced ligand binding of α-dystroglycan and causing a spectrum of congenital muscular dystrophies with brain and eye anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A10 | Loss-of-function mutations impair O-mannosyl glycosylation of α-dystroglycan, reducing its ability to bind extracellular matrix proteins. | PMID: 23217329, 25466290 |
| Walker-Warburg syndrome | Biallelic pathogenic variants in RXYLT1 disrupt dystroglycan glycosylation, leading to severe neuronal migration defects and ocular abnormalities. | PMID: 23217329 |
| Muscle-eye-brain disease | Hypomorphic RXYLT1 mutations cause a milder phenotype with variable muscle, eye, and brain involvement. | PMID: 25466290 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Skeletal Muscle | 5.1 | Low |
| Kidney | 4.8 | Low |
| Liver | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.3 | Embryonic kidney cells |
| SH-SY5Y | 6.8 | Neuroblastoma cells |
| HeLa | 5.2 | Cervical carcinoma cells |
| HepG2 | 4.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop; loss of function |
| c.266G>A (p.Arg89His) | Missense | Rare | Impaired enzymatic activity |
| c.676C>T (p.Arg226Trp) | Missense | Rare | Reduced xylosyltransferase activity |
| c.947_948del (p.Leu316Profs*13) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense variants that abolish or severely reduce xylosyltransferase activity lead to dystroglycanopathy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • xylosyltransferase activity | • Golgi membrane |
| • protein O-linked mannosylation | • dystroglycan O-mannosylation |
| • endoplasmic reticulum to Golgi vesicle-mediated transport |
Pathways
• O-mannosyl glycan biosynthesis
• Dystroglycan glycosylation
Protein Summary
RXYLT1 is a 369-amino acid type II transmembrane protein with a single transmembrane domain and a luminal catalytic domain. It belongs to the glycosyltransferase 8 family and specifically transfers xylose to ribitol-5-phosphate, a critical step in the synthesis of the O-mannosyl glycan core M3. This modification is essential for the function of α-dystroglycan as a receptor for extracellular matrix proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RXYLT1 Knockout HEK293 Cell Line | EDJ-KQ7008 | Human | 10329 | Details Get a Quote |
| RXYLT1 Knockout A-549 Cell Line | EDJ-KQ31744 | Human | 10329 | Details Get a Quote |
| RXYLT1 Knockout HCT 116 Cell Line | EDJ-KQ31745 | Human | 10329 | Details Get a Quote |
| RXYLT1 Knockout HeLa Cell Line | EDJ-KQ31746 | Human | 10329 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
